Canonical Allele Identifier: CA2651255264

Gene: FH

Linked Data

• gnomAD v4: 1-241511882-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511882A>G , CM000663.2:g.241511882A>G	GRCh38
NC_000001.10:g.241675182A>G , CM000663.1:g.241675182A>G	GRCh37
NC_000001.9:g.239741805A>G	NCBI36
NG_012338.1:g.12873T>C , LRG_504:g.12873T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+85T>C
ENST00000682162.1:c.584+85T>C	ENSP00000508203.1:n.584+85T>C
ENST00000682567.1:n.632+85T>C
ENST00000683521.1:c.555+85T>C	ENSP00000506864.1:n.555+85T>C
ENST00000684483.1:c.555+85T>C	ENSP00000507894.1:n.555+85T>C
ENST00000366560.4:c.555+85T>C MANE Select	ENSP00000355518.4:n.555+85T>C
ENST00000366560.3:c.555+85T>C	ENSP00000355518.3:n.555+85T>C
ENST00000497042.1:n.336T>C
NM_000143.3:c.555+85T>C , LRG_504t1:c.555+85T>C	NP_000134.2:n.555+85T>C
XM_011544132.1:c.327+85T>C	XP_011542434.1:n.327+85T>C
XM_011544132.2:c.327+85T>C	XP_011542434.1:n.327+85T>C
NM_000143.4:c.555+85T>C MANE Select	NP_000134.2:n.555+85T>C